Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

por Bean, Lora J. H., Hegde, Madhuri R.
Publicado 2017

Reply: Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy

por Nallamilli, Babi Ramesh Reddy, Chakravorty, Samya, Kesari, Akanchha, Bean, Lora, Hegde, Madhuri
Publicado 2020

Detection limit of intragenic deletions with targeted array comparative genomic hybridization

por Askree, S Hussain, Chin, Ephrem LH, Bean, Lora H, Coffee, Bradford, Tanner, Alice, Hegde, Madhuri
Publicado 2013

eP321: Extending and adapting the functions of genetic laboratories in the continuing COVID pandemic–challenges and successes

por Bean, Lora, Rosendorff, Adam, Dallaire, Stephanie, Chin, Eprem, Jarvis, Ian, Borandi, P.J., Romigh, Sean, Dennewitz, LeeAnn, Hegde, Madhuri
Publicado 2022

The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine

por Li, Hong, Zhao, Lihua, Singh, Rani, Ham, J. Nina, Fadoju, Doris O., Bean, Lora J.H., Zhang, Yan, Xu, Yong, Xu, H. Eric, Gambello, Michael J.
Publicado 2018

An Examination of the Relationship between Hotspots and Recombination Associated with Chromosome 21 Nondisjunction

por Oliver, Tiffany Renee, Middlebrooks, Candace D., Tinker, Stuart W., Allen, Emily Graves, Bean, Lora J. H., Begum, Ferdouse, Feingold, Eleanor, Chowdhury, Reshmi, Cheung, Vivian, Sherman, Stephanie L.
Publicado 2014

Extending and adapting the functions of genetic laboratories during the COVID-19 pandemic–challenges and successes

por Bean, Lora, Chin, Eprem, Jarvis, Ian, Schmitt, Laura, Blencowe, Dayle, Ping, Bruno, Gurr, Jan, Ma, Zeqiang, Voultsis, Evangeline, Dallaire, Stephanie, Le, Nam, Behlmann, Andrea, Romigh, Sean, Borandi, PJ, Hegde, Madhuri
Publicado 2021

eP490: A united front on tackling a pandemic – the true value of industry and government partnerships

por Jarvis, Ian, Chin, Ephrem, Rosendorff, Adam, Bean, Lora, Dallaire, Stephanie, Best, John, Wilbraham, Stephanie, Romigh, Sean, Borandi, P.J., Ma, Zeqiang, Dennewitz, LeeAnn, Habibi, Max, Burrows, Miles, Hegde, Madhuri
Publicado 2022

Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase

por Carney, Amanda E., Sanders, Rebecca D., Garza, Kerry R., McGaha, Lee Anne, Bean, Lora J. H., Coffee, Bradford W., Thomas, James W., Cutler, David J., Kurtkaya, Natalie L., Fridovich-Keil, Judith L.
Publicado 2009

At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children

por Balciuniene, Jorune, Liu, Ruby, Bean, Lora, Guo, Fen, Nallamilli, Babi Ramesh Reddy, Guruju, Naga, Chen-Deutsch, Xiangwen, Yousaf, Rizwan, Fura, Kristina, Chin, Ephrem, Mathur, Abhinav, Ma, Zeqiang, Carmichael, Jonathan, da Silva, Cristina, Collins, Christin, Hegde, Madhuri
Publicado 2023

Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects

por Rambo-Martin, Benjamin L., Mulle, Jennifer G., Cutler, David J., Bean, Lora J. H., Rosser, Tracie C., Dooley, Kenneth J., Cua, Clifford, Capone, George, Maslen, Cheryl L., Reeves, Roger H., Sherman, Stephanie L., Zwick, Michael E.
Publicado 2017

Contribution of Copy Number Variation to Down Syndrome-associated Atrioventricular Septal Defects

por Ramachandran, Dhanya, Mulle, Jennifer G., Locke, Adam E., Bean, Lora J.H., Rosser, Tracie C., Bose, Promita, Dooley, Kenneth J., Cua, Clifford L., Capone, George T., Reeves, Roger H., Maslen, Cheryl L., Cutler, David J., Sherman, Stephanie L., Zwick, Michael E.
Publicado 2014

Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects

por Ramachandran, Dhanya, Zeng, Zhen, Locke, Adam E., Mulle, Jennifer G., Bean, Lora J.H., Rosser, Tracie C., Dooley, Kenneth J., Cua, Clifford L., Capone, George T., Reeves, Roger H., Maslen, Cheryl L., Cutler, David J., Feingold, Eleanor, Sherman, Stephanie L., Zwick, Michael E.
Publicado 2015

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

por Nallamilli, Babi Ramesh Reddy, Chakravorty, Samya, Kesari, Akanchha, Tanner, Alice, Ankala, Arunkanth, Schneider, Thomas, da Silva, Cristina, Beadling, Randall, Alexander, John J., Askree, Syed Hussain, Whitt, Zachary, Bean, Lora, Collins, Christin, Khadilkar, Satish, Gaitonde, Pradnya, Dastur, Rashna, Wicklund, Matthew, Mozaffar, Tahseen, Harms, Matthew, Rufibach, Laura, Mittal, Plavi, Hegde, Madhuri
Publicado 2018